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mutLBSgeneDB |
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| Gene summary for ACBD4 |
 Gene summary |
| Basic gene Info. | Gene symbol | ACBD4 |
| Gene name | acyl-CoA binding domain containing 4 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 17q21.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001135704.1, NM_001135705.1,NM_001135706.1,NM_001135707.1,NM_024722.2, | |
| Description | acyl-CoA-binding domain-containing protein 4acyl-Coenzyme A binding domain containing 4 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000181513 | ||
| Vega : OTTHUMG00000180111 | ||
| Protein | UniProt: Q8NC06 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACBD4 | |
| BioGPS: 79777 | ||
| Pathway | NCI Pathway Interaction Database: ACBD4 | |
| KEGG: ACBD4 | ||
| REACTOME: ACBD4 | ||
| Pathway Commons: ACBD4 | ||
| Context | iHOP: ACBD4 | |
| ligand binding site mutation search in PubMed: ACBD4 | ||
| UCL Cancer Institute: ACBD4 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for ACBD4 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R58 | R58W | BRCA | 1 | R58 | R58L | LUAD | 1 | Y46 | Y46C | STAD | 1 | P34,Y32 | R33C | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for ACBD4 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R58 | R58W | -1.0307718 | Y46 | Y46C | -0.94168457 | Y32 | R33C | -0.9338535 | P34 | R33C | -0.9338535 | R58 | R58L | -0.77897535 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for ACBD4 from PDB |
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| Differential gene expression and gene-gene network for ACBD4 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for ACBD4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACBD4 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACBD4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of ACBD4 |
| Multiple alignments for Q8NC06 in multiple species |
| LBS | AA sequence | # species | Species | F42 | EEMLRFYSYYK | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | G30 | NLPKNGSYRPS | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | I100 | VAQKVIDTVPL | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | I23 | AAVSVIQNLPK | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | K28 | IQNLPKNGSYR | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | K47 | FYSYYKQATMG | 2 | Homo sapiens, Bos taurus | K47 | FYSYYKQATAG | 1 | Rattus norvegicus | K69 | PIGRYKWDAWN | 2 | Homo sapiens, Rattus norvegicus | K69 | PIGRYKWEAWN | 1 | Bos taurus | L26 | SVIQNLPKNGS | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | M92 | AYITEMKLVAQ | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | P27 | VIQNLPKNGSY | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | P34 | NGSYRPSYEEM | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Q24 | AVSVIQNLPKN | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | R58 | PCLVPRPGFWD | 2 | Homo sapiens, Rattus norvegicus | R58 | PCLIPQPGFWD | 1 | Bos taurus | R67 | WDPIGRYKWDA | 2 | Homo sapiens, Rattus norvegicus | R67 | WDPIGRYKWEA | 1 | Bos taurus | S31 | LPKNGSYRPSY | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V20 | QFQAAVSVIQN | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V22 | QAAVSVIQNLP | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V95 | TEMKLVAQKVI | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | V99 | LVAQKVIDTVP | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Y32 | PKNGSYRPSYE | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Y43 | EMLRFYSYYKQ | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | Y46 | RFYSYYKQATM | 2 | Homo sapiens, Bos taurus | Y46 | RFYSYYKQATA | 1 | Rattus norvegicus | Y88 | EAMSAYITEMK | 3 | Homo sapiens, Rattus norvegicus, Bos taurus |
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